Familial Meniere Disease

Gene: DTNA

Amber List (moderate evidence)

DTNA (dystrobrevin alpha)
EnsemblGeneIds (GRCh38): ENSG00000134769
EnsemblGeneIds (GRCh37): ENSG00000134769
OMIM: 601239, Gene2Phenotype
DTNA is in 4 panels

4 reviews

Jose Antonio Lopez-Escamez (Center for Genomic GENyO)

The same family segragated another mutation in FAM136A.
The missense mutation in the DTNA gene produces a novel splice site which skips exon 21 and leads to a shorter alternative transcript. This variant has been found in another unrelated individual with episodic vertigo in the spanish population
20 Feb 2018, 5:53 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Meniere disease

Publications

Variants in this GENE are reported as part of current diagnostic practice

Eleanor Williams (Genomics England Curator)

Comment on list classification: Rated as Amber with watchlist tag. One published case of a single family with variant in this gene plus another variant in FAM136A . Also one unpublished case in an unrelated individual with episodic vertigo.
21 Mar 2018, 10:20 a.m.
Added tag of watchlist since two cases now reported (1 by reviewer)
21 Mar 2018, 10:15 a.m.
Comment on publications: Added publication as recommended as reviewers.
8 Feb 2018, 5:09 p.m.
Comment on mode of inheritance: Added MOI based on reviewer comment. Note evidence only in one published family to date.
8 Feb 2018, 5:04 p.m.
Added tag of multifactorial in response to reviewer comments. 2018-02-08.
8 Feb 2018, 5:02 p.m.

Georgios Korres (Honorary Fellow in Neuro-Otology, Royal National Throat Nose and Ear Hospital, University College London Hospitals NHS Trust)

Red List (low evidence)

Variant was not found in Exome variant server databases. Author suggests multifactorial etiology in this family
28 Jan 2018, 9:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Mechanism of action unknown.
Single family described
24 Jan 2018, 10:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Other
Phenotypes
  • Meniere disease
Tags
watchlist multifactorial
OMIM
601239
Clinvar variants
Variants in DTNA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Mar 2018, Gel status: 2

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

External reviews collated. Internal clinical input. Ready for version 1.

21 Mar 2018, Gel status: 2

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

21 Mar 2018, Gel status: 2

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

21 Mar 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for DTNA were set to Meniere disease

8 Feb 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for DTNA were set to 28787010; 25305078

8 Feb 2018, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for DTNA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Jan 2018, Gel status: 1

Added New Source, Set publications

Eleanor Williams (Genomics England Curator)

Literature was added to DTNA. Panel: Familial Meniere Disease Publications for gene DTNA was set to ['28787010']

17 Jan 2018, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

DTNA was added to Familial Meniere Disease panel. Sources: Other

17 Jan 2018, Gel status: 1

Created

Eleanor Williams (Genomics England Curator)

DTNA was created by Eleanor Williams